AutismKB

Evidence Detail for MYO18A


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Basic Information Top
Gene Symbol:MYO18A ( DKFZp686L0243,KIAA0216,MYSPDZ,SPR210 )
Gene Full Name: myosin XVIIIA
Band: 17q11.2
Quick LinksEntrez ID:399687; OMIM: 610067; Uniprot ID:MY18A_HUMAN; ENSEMBL ID: ENSG00000196535
Sequences Top
>MYO18A|399687|nucleotide
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>MYO18A|399687|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 0 (0) 2 (6) 0 (0) 1 (1) 10 (8)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.59).
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
0.86 Down 0.0000083
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_078471
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000008 17q11.2 17 D17S1294 2.85 - - McCauley, 2005
AutLD0000016 17q11.2 17 D17S1800 2.83 - - Yonan, 2003
AutLD0000039 17q11.2 17 HTTINT2 2.34 - - Monaco, 2001
AutLD0000108 17q11.2 17 D17S1294 - 2.39 - Ylisaukko-oja, 2006
AutLD0000118 17q11.2 17 - - 2.1 - Spence, 2006
AutLD0000148 17q11.2 17 D17S1800 5.82 4.88 0.000000159 Sutcliffe, 2005

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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